0000000000311967
AUTHOR
O. Portoles
showing 7 related works from this author
Single tube optimisation of APOE genotyping based on melting curve analysis
2008
Objectives: To develop and validate a single-tube protocol for APOE genotyping using fluorescent probes. Design and methods: We have designed and validated a hybrid, single-tube, SimpleProbe/FRET probe protocol that takes advantage of the different probe wavelength emissions. Results: Our method offers high quality outcomes, minimum interferences between probe signals and is 100% concordant with the reference protocol. Conclusions: This method is cheaper, faster and more reliable and versatile than other alternatives proposed. © 2008 Elsevier Inc. All rights reserved.
Amelogenin test: From forensics to quality control in clinical and biochemical genomics.
2007
Abstract Background The increasing number of samples from the biomedical genetic studies and the number of centers participating in the same involves increasing risk of mistakes in the different sample handling stages. We have evaluated the usefulness of the amelogenin test for quality control in sample identification. Methods Amelogenin test (frequently used in forensics) was undertaken on 1224 individuals participating in a biomedical study. Concordance between referred sex in the database and amelogenin test was estimated. Additional sex-error genetic detecting systems were developed. Results The overall concordance rate was 99.84% (1222/1224). Two samples showed a female amelogenin test…
PPAR-alpha L162V and PGC-1 G482S gene polymorphisms, but not PPAR-gamma P12A, are associated with alcohol consumption in a Spanish Mediterranean popu…
2008
Abstract Background Peroxisome Proliferator-Activated Receptors (PPARs) and its co-activators are regulatory elements of the cellular lipid homeostasis and have been associated with feeding behavior modulation. Animal models suggest that these genes may be involved in alcohol consumption regulation. However, no studies in humans exist. Our aim is to estimate the possible association between polymorphisms in the PPAR-α , PPAR-γ and PPAR-γ co-activator 1A ( PGC-1A ) genes and alcohol consumption in humans. Methods We have conducted a cross-sectional study between the PPAR-α L162V, PPAR-γ P12A and PGC-1A G482S polymorphisms, and alcohol consumption in a general Mediterranean Spanish population…
Dietary Diversity and Nutritional Adequacy among an Older Spanish Population with Metabolic Syndrome in the PREDIMED-Plus Study: A Cross-Sectional An…
2019
Dietary guidelines emphasize the importance of a varied diet to provide an adequate nutrient intake. However, an older age is often associated with consumption of monotonous diets that can be nutritionally inadequate, increasing the risk for the development or progression of diet-related chronic diseases, such as metabolic syndrome (MetS). To assess the association between dietary diversity (DD) and nutrient intake adequacy and to identify demographic variables associated with DD, we cross-sectionally analyzed baseline data from the PREDIMED-Plus trial: 6587 Spanish adults aged 55&ndash
Predisposición genética en el consumo de alcohol: el caso de la Alcohol Deshidrogenasa 1C
2007
Introduccion: El consumo de alcohol se presenta frecuentemente asociado a determinados delitos, siendo en unas ocasiones atenuante o eximente, y en otras una infraccion penal per se. Se han identificado numerosos factores geneticos y ambientales que predisponen al consumo de alcohol. Nuestro objetivo ha sido estudiar la prevalencia del polimorfismo Ile349Val en la alcohol deshidrogenasa 1C que da lugar a la isoforma gamma 2 (metabolizador lento), y estudiar su asociacion con el consumo de alcohol asi como reflexionar sobre la dimension de la implicacion de estas variantes geneticas en la Medicina Legal. Material y Metodos: Se ha genotipado el polimorfismo Ile 349Val en 869 individuos proced…
Efecto del polimorfismo +2138InsCAGACC en el gen del receptor 3 de la melanocortina en el riesgo de obesidad en población española
2007
Objetivo El receptor 3 de la melanocortina (MC3R) ha sido implicado en la regulacion de la homeostasis energetica y en el peso corporal. Nuestro objetivo es conocer si el polimorfismo +2138InsCAGACC en dicho gen se asocia con el riesgo de obesidad en poblacion espanola. Material y metodo Se ha realizado un estudio de casos y controles con 303 casos de obesidad y 606 controles apareados por sexo y edad. Se determinaron variables antropometricas y del estilo de vida y el polimorfismo +2138InsCAGACC en el gen del MC3R. Resultados La frecuencia alelica para la variante +2138InsCAGACC para el total de la poblacion fue de 0,29, y resulto ligeramente menos frecuente en el grupo de casos que en el …
Usefulness of Thrombophilia Testing in Venous Thromboembolic Disease
2012
Information on thrombophilia risk factors for patients with upper extremity deep vein thrombosis (UEDVT) is limited. The genetic, acquired, and coagulation risk factors of an acute episode of lower EDVT (LEDVT) or UEDVT, either isolated or associated with pulmonary embolism (PE), were studied.A total of 4503 patients participated in a thrombophilia study. Odds ratio (OR) and 95% confidence intervals (CIs) were calculated.Mean age of the participants was 55 ± 19 years. The risk of LEDVT or UEDVT, isolated or associated with PE, was calculated according to thrombophilia factors. We found association between LEDVT and factor V Leiden ([FVL]; OR: 1.8; 95% CI 1.4-2.4) and resistance to activated…